ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.418A>G (p.Met140Val) (rs761526437)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000290171 SCV000445027 uncertain significance Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347510 SCV000445028 uncertain significance Vasculopathy, retinal, with cerebral leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000813186 SCV000953531 uncertain significance Aicardi Goutieres syndrome 1; Vasculopathy, retinal, with cerebral leukodystrophy; Chilblain Lupus 2018-09-05 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 140 of the TREX1 protein (p.Met140Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs761526437, ExAC 0.002%). This variant has not been reported in the literature in individuals with TREX1-related disease. ClinVar contains an entry for this variant (Variation ID: 345777). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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